Additional file 2: of Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

Alrayes, Nuha; Mohamoud, Hussein; Jelani, Musharraf; Ahmad, Saleem; Vadgama, Nirmal; Bakur, Khadijah; Simpson, Michael; Al-Aama, Jumana; Nasir, Jamal

doi:10.6084/m9.figshare.c.3614948_D2.v1

13104_2015_1227_MOESM2_ESM.docx (18.73 kB)

Additional file 2: of Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

journal contribution

posted on 2015-06-27, 05:00 authored by Nuha Alrayes, Hussein Mohamoud, Musharraf Jelani, Saleem Ahmad, Nirmal Vadgama, Khadijah Bakur, Michael Simpson, Jumana Al-Aama, Jamal Nasir

TableÂ S2. Clinical comparison of three SPG54 families with pR287X mutation. The detailed clinical phenotype identified in our family is compared with two previously reported families with the same mutation in DDHD2.